ELMOD3

This gene encodes a member of the engulfment and cell motility family of GTPase-activating proteins that regulate Arf GTPase proteins. Members of this family are defined by a conserved engulfment and cell motility domain. In rat cochlea, the encoded protein is found in stereocilia, kinocilia and cuticular plate of developing hair cells suggesting a function for this protein in cochlear sensory cells. An allelic variant of this family has been associated with autosomal recessive nonsyndromic deafness-88 in humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

Description

ELMO domain containing 3

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Mitochondria

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins

Chromosome

2 (85354394 - 85391752)

Ensembl ID

ENSG00000115459  (ver. 103.38)

Orthologs

Mouse Elmod3: ENSMUSG00000056698

UniProt

Q96FG2

neXtProt

NX_Q96FG2

Human splice variants
Mouse splice variants

Protein structure